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FGFR3 mutation
achondroplasia -failure of longitudinal bone growth -unaffected membranous ossification -a/w advanced paternal age -AD
abnl OCs
osteopetrosis -serum Ca, phos, ALP NORMAL -genetic deficiency of CAII -Erlenmeyer flask bones
high ALP
osteitis fibrosa cystica, Paget's dz
abnl bone architecture caused by inc in OC and OB activity a/w paramyxovirus mosaic bone pattern chalk-stick fractures may cause high output CHF can lead to osteogenic sarcoma
Paget's dz
-polyostotic fibrous dysplasia / unilateral bone lesions -endocrine abnl's (precocious puberty) -unilateral pigmented skin lesions
McCune-Albright syndrome
most common benign tumors of bone
osteochondroma (exostosis), giant cell tumor
bone tumor that usually appears at the epiphysis
giant cell tumor
bone tumors that usually appear at the metaphysis
osteochondroma, osteosarcoma
intramedullary bone tumors
enchondroma, chondrosarcoma
bone tumors of the diaphysis
Ewing sarcoma, osteoid osteoma
bone tumors that usu occur at the KNEE
osteosarcoma, giant cell tumor
Sjogren's syndrome
classic triad: dry eyes, dry mouth, arthritis inc risk of B cell lymphoma parotid enlargement ANA(+) - SS-A, SS-B females 40-60
DIP (Heberden's nodes) and PIP (Bouchard's nodes) involvement
OA pain in wt-bearing joints AFTER USE
PIP and MCP involvement
RA MORNING STIFFNESS
HLA-DR4
RA
HLA-B27
seronegative spondyloarthropathies -ankylosing spondylitis -Reiter's syndrome -psoriatic arthritis
can't see can't pee can't climb a tree
Reiter's syndrome -conjunctivitis and anterior uveitis -urethritis -arthritis
dactylitis (sausage fingers), pencil-in-cup deformity
psoriatic arthritis
a/w Gardner's syndrome often in skull
osteoma
interlacing trabeculae of woven bone surrounded by OBs
osteoid osteoma men<25
20-40yrs locally aggressive soap bubble appearance
giant cell tumor
men younger than 25 mature bone with cartilaginous cap
osteochondroma
men 10-20 Codman's triange, sunburst pattern
osteosarcoma predisposing factors: -Paget's dz -bone infarcts -radiation -familial retinoblastoma
hands and feet
enchondroma
boys younger than 15 extremely aggressive with early mets, but sensitive to chemo onion-skin appearance long bones, pelvis, scapula, ribs 11:22
Ewing sarcoma
men 30-60 pelvis, spine, spacula, humerus, tibia, femur primary origin or from osteochondroma
chondrosarcoma
ANA(+) conditions
1. SLE 2. Sjogren's, sicca 3. scleroderma 4. polymyositis 5. dermatomyositis 6. RA 7. JA 8. mixed connective tissue dz
causes of hyperuricemia
1. Lesch-Nyhan syndrome 2. PRPP excess 3. dec excretion (due to thiazides) 4. inc cell turnover 5. von Gierke's dz
yellow crystals under parallel light
gout
basophilic, rhomboid crystals that are weakly positively birefringent
pseudogout
causes of chronic infxs arthritis
TB, Lyme dz
monoarticular migratory arthritis with asymmetrical pattern
gonococcal arthritis other causes of septic arthritis: S. aureus, Strep
noncaseating granulomas elevated serum ACE restrictive lung dz bilateral hilar adenopathy erythema nodosum Bell's palsy epithelial granulomas containing microscopic Schaumann and asteroid bodies uveoparotitis hypercalcemia gammaglobulinemia
sarcoidosis Gammaglobulinemia Rheumatoid arthritis ACE increase Interstitial fibrosis Noncaseating granulomas
most common NMJ disorder, a/w thymoma
MG
paraneoplastic dz, proximal muscle weakness, sx improve with muscle use
Lambert-Eaton syndrome
elevated CK
polymyositis
elevated ESR, nl CK
polymyalgia rheumatica
anti-Jo-1
polymyositis
anti-U1RNP
mixed connective tissue dz
pain and stiffness in shoulders and hips, a/w temporal arteritis
polymyalgia rheumatica
progressive symmetric muscle weakness caused by CD8 T cell-induced injury to myocytes often involves shoulders malar rash heliotrope rash shawl and face rash Gottron's papules inc risk of malignancy inc CK, inc aldolase, ANA(+)
dermatomyositis
anti-Scl-70 (anti-DNA topoisomerase I Ab)
diffuse scleroderma widespread skin involvement, rapid progression, early visceral involvement (lungs, heart, kidneys, GI)
antiCentromere Ab
CREST syndrome Calcinosis Raynaud's phenomenon Esophageal dysmotility Sclerodactyly Telangiectasia limited skin involvement, often confined to fingers and face more benign clinical course (than diffuse scleroderma)
most common soft tissue tumor of childhood
rhabdomyosarcoma arises from SKM, mostly in head/neck
separation of epidermal cells
acantholysis
epidermal hyperplasia
acanthosis
SUPERFICIAL skin infxn from S. aureus or S. pyogenes; very infxs. honey-colored crusting
impetigo
infxn of DERMIS and SQ TISSUES by S. pyogenes or S. aureus. acute, painful
cellulitis
deep tissue injury from anaerobes or S. pyogenes --> crepitus from methane and CO2 production
necrotizing fasciitis
hairy leukoplakia is mediated by ______
EBV
fever generalized erythematous rash sloughing of upper layers of epidermis seen in newborns and children
staphylococcal scalded skin syndrome exotoxin destroys keratinocyte attachments in stratum granulosum
nl melanocyte number, dec melanin production
albinism due to dec tyrosinase activity or failure of neural crest migration during development
dec in melanocyte number
vitiligo
mask of pregnancy
melasma
nevocellular nevus
common mole
ephelis
freckles
hyperkeratosis, koilocytosis
verrucae
papules and plaques with silver scale acanthosis parakeratosis knees and elbows, scalp and sacral area
psoriasis usu nonpruritic Auspitz sign - bleeding spots when scales are scraped off
allergic contact dermatitis and a type ____ hypersensitivity reaction
IV
common benign neoplasm of older ppl head, trunk, extremities flat, greasy, pigmented sq epi proliferation with keratinic cysts
seborrheic keratosis
premalignant lesions caused by sun exposure small, rough, erythematous or brownish papules
actinic keratosis "cutaneous horn"
anti-desmosome IgG acantholysis intraepidermal bullae involving skin and oral mucosa
pemphigous vulgaris potentially fatal Nikolsky's sign - separation of epidermis upon manual stroking of skin
anti-hemidesmosome IgG (linear immunofluorescence) eosinophils in blisters spares oral mucosa
bullous pemphigoid
recurrent pruritic blistering disorder extensor surfaces of knees, elbows, scalp, upper back, sacral area IgA deposits at tips of dermal papillae a/w celiac dz dermal microabscesses with PMNs and eosinophils at the tips of dermal papillae, which becom
dermatitis herpetiformis
macules, papules, vesicles target lesions a/w infxns, drugs, cancers, autoimmune dz
erythema multiforme
fever, bullae formation, necrosis, sloughing of skin a/w adverse drug rxn
Stevens-Johnson syndrome more severe: toxic epidermal necrolysis
hyperplasia of stratum spinosum a/w hyperinsulinemia, visceral malignancy
acanthosis nigricans
sheets and islands of neoplastic epidermal cells, often with keratin pearls
squamous cell carcinoma -rarely metastasizes -usu appears in sun-exposed areas - [LOWER] face and back of hands -also a/w arsenic, radiation -often originates from actinic keratosis -scaling, indurated, ulcerated nodule
most common of all malignant skin tumors
basal cell carcinoma -usu involves sun-exposed areas - head (UPPER face) and neck -almost never metastasizes -pearly papule with telangietasia -palisading nuclei at periphery of tumor cell clusters (darkly staining basaloid cells)
arises from melanocytes or nevus cells S-100 tumor marker
melanoma -excessive exposure to sunlight -DEPTH of tumor correlates with risk of mets
a/w HepC sawtooth infiltrate of lymphocytes at dermal-epidermal jct
lichen Planus Purple, Pruritic, Polygonal Papules
multiple papular eruptions herald patch --> christmas tree distribution remits spontaneously
pityriasis rosea
inflammation of SQ fat, usu on shins
erythema nodosum
What are some conditions that involve erythema nodosum?
coccidiodomycosis histoplasmosis TB leprosy strep infxns sarcoidosis
bisphosphonates
"dronates" inhibit OC activity reduce formation and resorption of hydroxyapatite uses: hyperCa of malignancy, Paget's dz, postmenopausal osteoporosis
SE of bisphosphonates
corrosive esophagitis, nausea, diarrhea
treat acute gout
colchicine - stabilizes tubulin and inhibit polymerization; GI SE indomethacin
treat chronic gout
probenecid - inhibit reabs of uric acid allopurinol - inhibit xanthine oxidase, can inc asathioprine and 6MP concentrations DO NOT give salicylates. all but the highest doses depress uric acid clearance.
reversibly inhibit COX2
celecoxib uses: RA, OA SE: inc risk of thrombosis (relative inc in TXA2), sulfa allergy
reversibly inhibits COX in CNS; inactivated peripherally
acetaminophen NO anti-inflammatory activity
antidote for acetominophen toxicity
N-acetylcysteine - regenerate glutathione
COX isoform found in inflammatory cells and vascular endothelium
COX-2
LTB4
PMN chemotactic agent "PMNs arive B4 others"
irreversibly inhibits COX
aspirin low dose (less than 300mg): inhibit plt aggretation intermediate dose: antipyretic and analgesic high dose (2400-4000): anti-inflammatory
aspirin SEs
gastric upset renal failure, interstitial nephritis upper GI bleeding Reye's syndrome
SE of NSAIDS
renal damage aplastic anemia GI distress ulcers
dec plt aggregation vasoD dec uterine tone
PGI2
bronchoC vasoC inc cap permeability
LTC/D/E4
prostaglandins
dec vascular tone inc pain inc temp inc uterine tone
zileuton
blocks lipoxygenase
zafirlukast, montelukast
block leukotriene formation
etanercept
"etanerCEPT is a TNF decoy reCEPTor" uses: RA, AS, psoriasis
infliximab
anti TNF ab uses: RA, AS, Crohn's SE: TB reactivation

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